Canonical Allele Identifier: PA2828411152
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65281
ClinVar RCV Id: RCV000055502 RCV000760985
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu448Pro
CA014458
NM_001370404.1:c.1343T>C